Pedigree analysis of glucose-6 phosphate dehydrogenase (G6PD) deficiency of a Javanese Chinese family in Indonesia

Autor:	IDG Ugrasena, Taku Shirakawa, Kaoru Nishiyama, Masafumi Matsuo
Jazyk:	angličtina
Rok vydání:	2017
Předmět:	glucose-6-phosphatase dehydrogenase deficiency multiplex polymerase chain reaction hyperbilirubinemia Medicine Pediatrics RJ1-570
Zdroj:	Paediatrica Indonesiana, Vol 41, Iss 1, Pp 56-9 (2017)
Druh dokumentu:	article
ISSN:	0030-9311 2338-476X
DOI:	10.14238/pi41.1.2001.56-9
Popis:	The molecular and pedigree analyses in a Javanese Chinese family were carried oul on glucose-6-phosphate dehydrogenase deficiencies. By method of MPTP scanning without the sequencing steps, those variants could be confirmed. Two out of three sons were clinically jaundiced at birth due to G6PD deficiency and identified to have a G to T nucleotide change al 1376th nucleotide 01 the G6PD gene (GI376T), corresponding to G6PD Canton. Another son was also identified to have a C to T nucleotide change at 1311st nucleotide 01 the G6PD gene (CI311T), corresponding to a Silent mutation. Their father was normal, but their mother obsorved to have the heleromutation 01 G1376T (G6PD Canton and C1311T (a Silent mutation).
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/d1b03bfaf40943459b398c9ba3b32cec Zobrazit plný text záznamu View record in DOAJ